HOW I FOUND OUT ABOUT THIS PROGRAM

Back when I was born, there was hardly any information on MPS, let alone MPS VI. The doctors told my parents that all they could tell them was that this disease was called MPS VI, short for Muccopolysaccharidoses 6, and it was a rare and fatal genetic disorder. They said there was no cure and to enjoy the time that we had, because I was living on borrowed time. Little did they know that 31 years later I would be living on stolen time. The doctors also explained to Mom and Dad that the only treatment for this disease was a BMT - "bone marrow transplant." The doctors said it was no guarantee it would help. They said it was painful and could potentially be deadly. So Mom and Dad talked about it and decided their baby boy was not a guinea pig and didn't look back. So later on in my life about 28 surgeries later, my Dad and his second wife told me about an enzyme replacement therapy that was taking place in a town about an hour away from where I lived and said I should check it out. So thinking about what the doctors said about BMTs, I chalked it up to “If it was no guarantee, why take that chance?” So I thanked them for telling me, but I really was not interested and didn't think about it again until about 2 years later. By then, I was 29 years old. Life was getting tough. MPS was beating me up pretty bad. I finally saw an article on the Ryan Foundation’s home page. The article was about a little boy who had MPS I. He was the one who my dad had been telling me about; the one who was taking part in the enzyme replacement program, the one my dad told me about a year before. I read about the program that this Ryan boy was going through. I began to cry. I saw my life on that web page. I knew right away that I needed to do this. So I researched it thoroughly. I talked it over with my family. I then emailed the doctor who was in charge of this program. It was funny, because I sent the email expecting to have to wait for at least 2 days. I checked my email 30 minutes later. There was a reply to my email. From that point my life has never been the same.
Top

MY FIRST MEETING WITH THE DOCTOR

I called  Doctor Paul Harmatz and we set up a time to meet. I did not know what to think. My mom and step-dad drove me to Children’s Hospital in Oakland, California. We finally got there and met the doctor and his assistant, Julie Simon. I felt very good so far. Doctor Harmatz asked me about my medical history, which took awhile. He said with a grin, “Where in the heck have you been the last three years?” I smiled back saying, “Well, let’s see: Open-heart surgery, back surgery”... I told him I had been a little busy. I chuckled, being the smart aleck that I am. The doctor was as excited as me, so I said, “Let’s get this party started.” The next thing we needed to do was get a blood test, so I could prove I had MPS VI. Julie explained that just because I had MPS VI did not mean that I was automatically qualified to be a guinea pig for this study. I laughed and said, “If I don't qualify for being a MPS VI, that would shock me”. Julie and I set up a time to draw my blood. I was really nervous. You see it is really difficult to draw blood from someone who has MPS. Julie called me down and told me that these nurses are the best and have a lot of experience with getting blood from MPS patients. So we went up to the Day Hospital unit and Julie introduced me to a nurse who was also named  Julie. I asked her if she was good and Julie (the blood one) replied, “Yes I am. I have a lot of years of practice.” Then she drew my blood with no problem. The doctors wanted me to get a skin biopsy and this usually means that I was going to qualify. So I was very happy, got the biopsy and then went home thinking it was a sure thing. So they sent my blood to Australia to see if I qualified. In the meantime, up to now, I had never met another MPS in my 31 years of living. Doctor Harmatz invited me down to meet a fellow MPS. It was a kid from phase 2. His name was Claudio. I was so excited. I was so excited. Mom, Big Guy (my step-dad) and I drive down to Oakland where Claudio was getting his infusion. We were all kind of nervous, but more excited. That day really changed my life. I saw myself when I looked at Claudio. Immediately I felt a bond.  It was funny, because up to this day, my mom would get on me about sitting on my knees. I tried to tell her it helped me breathe better. Well, she saw Claudio doing the same thing and she finally understood. So Doctor Harmatz and Julie said the last thing we need to do was set up a time to see if I could handle the protocol. This consisted of walking for 12 minutes to see if I was able to walk. So we set up a time, and Mom and Big Guy drove me to Oakland. While we were waiting, we met another MPS.  She was a little girl named Shafon. I was getting so excited. Another MPS, who would of thought!
Top

THE NEXT STEP AND THE LONG WAIT 

Well, Julie introduced me to a man who was going to give me the walk test. His name was Bello, who turned out to be one of my most favorite people at the hospital. He said I had to walk for 12 minutes. That made me kind of nervous. I did not know if I could walk that long. So, I started. I felt stupid. I looked like an idiot. I felt like “Chariots of Fire.” That was the longest 12 minutes of my life. I finally finished. I proved to myself that I am a fighter and I can do anything I want if I want it bad enough. We went back up to the office and Doctor Harmatz said, “Now we wait.” So two days passed. I was growing inpatient. It seemed like 2 months passed. So I called Doctor Harmatz. He told me there was no word yet, but these things take time. So I called every day for the next nine days and sometimes two or three times a day. After 2 weeks passed, I new there was something wrong. So I gave Doctor Harmatz one last call. The news was not good. He said, "Brian, I am not going to insult your intelligence. As it stands now, you would not qualify. Your enzymes are too active." I was crushed. Here I was physically screwed up and now they were telling me I was not a real MPS. That’s the way I took it. However, Doctor Harmatz said, "We are going to run another test." The results came back with great news; I was in! To this day I don't know what happened, but all I know is that GOD was carrying me. Then I had to finish the rest of the tests, such as the stair climb. This consisted of climbing as many stairs as I possibly could in three minutes. There were also several other tests, like an echocardiogram, an EKG, then a pulmonary function test. I finally finished. All there was left to do was wait to get the schedule and make my final decision. In the meantime I met another family. They were from Guatemala. They had a little 8 year old with MPS. Her name was Isabel. She was so cute. Her family and I became good friends. Besides that, we started the study about the same time. So I had to make my decision.  Next, Julie introduced me to the new coordinator. Her name was Claudia.  I asked if she was single. Julie said “Yes.” So I made my decision right there on the spot…it was: Heck yeah!
Top

MY LIFE WOULD NEVER BE THE SAME

It was time for the big week. I had a week of testing and one day of infusion.  BioMarin sent a bus to get me everyday of testing. That was so cool. I was finally independent. I had just gotten done with my walk test and I had to use the restroom. I came out to a big crowd shouting my name.  It was a family from the Dominican Republic. They had a 12 year old girl and a 16 year old boy with MPS. There was something special about this family. I could only imagine what would come to pass. So anyway, I went back to Julie’s office. I knew that we all could not get our infusions on the same day. So I asked Julie to pair me up with Isabel. Julie said she was going to put me with Harold, the 16 year old boy. Julie said that Harold had been with all girls and needed another male. To be honest, I was upset. You see, this family spoke nothing but Spanish. Isabel's family knew a little English. All I could think about was not being able to communicate for 6 to 8 hours. Little did I know, it did not matter what language we spoke. We all spoke the universal language of "LOVE." So, I continued on that week with my testing. Finally the day was here.  My brother flew in from LA to take me to my first infusion. I was so glad he was going to be there with me. My brother Chris and I got up early on the day of my first infusion. We drove to Oakland to the hospital.  I had one more walk test. I did it, but I was so tired and hungry. I drove up to the Day Hospital on my motorized cart and I got really nervous. Then Julie S. greeted me at the door. She told me what bed I was assigned to, so I pulled up beside the bed. By this time, I was very nervous. You see, we had to have two IV's on our first infusions.
Top

PEOPLE TOLD ME I WAS CRAZY

Well after getting one or two infusions I noticed that something weird was going on with my body. My skin immediately started to get really soft, like I had been soaking in dish soap, and a life-long acne problem that I had cleared up. Another change was my hair, which got really soft and stopped falling out. Then my ears started opening up and I didn’t have to wear my hearing aid. I knew I was getting the real drug and not the placebo, however we did not know for sure. Only three of us were supposed to be getting the real stuff and when I talked about it with all the other families in the study they all thought I was crazy. You see, the others in the study were much younger than me, one being only eight years old, so they were not as aware of their bodies as I was. After all, I would have been a rich man if I had a nickel for every hour I had spent in doctors’ offices and hospitals by the time I even started the study. None of the others felt any different.
Top

Staying at the Hotel AND GETTING TO KNOW THE OTHER FAMILIES

This experience has been extremely good for me because it gave me the opportunity to learn whether I could be relatively independent. During the initial study I stayed in a hotel with the other families that were in the study, which I had never done. Other than when I went on a few choir tours when I was in high school, which my friends were on so they could help me, I had never stayed in a hotel by myself. I found out that I was able to take care of myself. The hotel had a kitchen and a separate bedroom and I felt like I was living in my own apartment. Due to my medical problems I had pretty much given up on thinking I could ever have my own place. The other families were also staying in the hotel so we spent time together every day. I got to know families from Guatemala, Portugal, Brazil, the Dominican Republic, and from other states. I learned how different people were affected by this disease and how they were treated because of the disease. I was really surprised to learn that MPS people from other countries were generally treated poorly because they were different, which also gave me a greater appreciation of my country.
Top